Cytogenetic analysis of 570 first trimester chorionic villi samplings: technique and results

Ann Genet. 1988;31(1):14-20.


In this report we present our experience based on 570 chorionic villi samplings performed by the transcervical method at 8 to 12 weeks gestation. Cytogenetic results were obtained for 551 samples, hence a failure rate of 3.33%. The previously described technique was modified by prolonging the incubation period to 48 hours. The total number of abnormalities was 26, which represents 4.71% of our sample. Of 24 chromosomal abnormalities, 21 were unbalanced and 3 were balanced of parental origin. Five discordant cases are thoroughly discussed.

MeSH terms

  • Chorionic Villi / ultrastructure*
  • Chromosome Aberrations / diagnosis*
  • Chromosome Disorders
  • Female
  • Humans
  • Methods
  • Pregnancy
  • Pregnancy Trimester, First
  • Prenatal Diagnosis*
  • Sex Chromosome Aberrations / diagnosis